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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 19-30548762-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=30548762&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 30548762,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000355537.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF536",
"gene_hgnc_id": 29025,
"hgvs_c": "c.3143C>A",
"hgvs_p": "p.Ala1048Glu",
"transcript": "NM_014717.3",
"protein_id": "NP_055532.1",
"transcript_support_level": null,
"aa_start": 1048,
"aa_end": null,
"aa_length": 1300,
"cds_start": 3143,
"cds_end": null,
"cds_length": 3903,
"cdna_start": 3318,
"cdna_end": null,
"cdna_length": 4973,
"mane_select": "ENST00000355537.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF536",
"gene_hgnc_id": 29025,
"hgvs_c": "c.3143C>A",
"hgvs_p": "p.Ala1048Glu",
"transcript": "ENST00000355537.4",
"protein_id": "ENSP00000347730.1",
"transcript_support_level": 1,
"aa_start": 1048,
"aa_end": null,
"aa_length": 1300,
"cds_start": 3143,
"cds_end": null,
"cds_length": 3903,
"cdna_start": 3318,
"cdna_end": null,
"cdna_length": 4973,
"mane_select": "NM_014717.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF536",
"gene_hgnc_id": 29025,
"hgvs_c": "c.3143C>A",
"hgvs_p": "p.Ala1048Glu",
"transcript": "NM_001376110.1",
"protein_id": "NP_001363039.1",
"transcript_support_level": null,
"aa_start": 1048,
"aa_end": null,
"aa_length": 1379,
"cds_start": 3143,
"cds_end": null,
"cds_length": 4140,
"cdna_start": 3294,
"cdna_end": null,
"cdna_length": 6876,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF536",
"gene_hgnc_id": 29025,
"hgvs_c": "c.3143C>A",
"hgvs_p": "p.Ala1048Glu",
"transcript": "NM_001376111.1",
"protein_id": "NP_001363040.1",
"transcript_support_level": null,
"aa_start": 1048,
"aa_end": null,
"aa_length": 1379,
"cds_start": 3143,
"cds_end": null,
"cds_length": 4140,
"cdna_start": 3379,
"cdna_end": null,
"cdna_length": 6961,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF536",
"gene_hgnc_id": 29025,
"hgvs_c": "c.3143C>A",
"hgvs_p": "p.Ala1048Glu",
"transcript": "NM_001438953.1",
"protein_id": "NP_001425882.1",
"transcript_support_level": null,
"aa_start": 1048,
"aa_end": null,
"aa_length": 1379,
"cds_start": 3143,
"cds_end": null,
"cds_length": 4140,
"cdna_start": 3345,
"cdna_end": null,
"cdna_length": 6927,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF536",
"gene_hgnc_id": 29025,
"hgvs_c": "c.3143C>A",
"hgvs_p": "p.Ala1048Glu",
"transcript": "ENST00000592773.3",
"protein_id": "ENSP00000467909.3",
"transcript_support_level": 5,
"aa_start": 1048,
"aa_end": null,
"aa_length": 1379,
"cds_start": 3143,
"cds_end": null,
"cds_length": 4140,
"cdna_start": 3280,
"cdna_end": null,
"cdna_length": 6814,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF536",
"gene_hgnc_id": 29025,
"hgvs_c": "c.3143C>A",
"hgvs_p": "p.Ala1048Glu",
"transcript": "NM_001352260.2",
"protein_id": "NP_001339189.1",
"transcript_support_level": null,
"aa_start": 1048,
"aa_end": null,
"aa_length": 1302,
"cds_start": 3143,
"cds_end": null,
"cds_length": 3909,
"cdna_start": 3318,
"cdna_end": null,
"cdna_length": 6940,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF536",
"gene_hgnc_id": 29025,
"hgvs_c": "c.3143C>A",
"hgvs_p": "p.Ala1048Glu",
"transcript": "ENST00000706148.1",
"protein_id": "ENSP00000516231.1",
"transcript_support_level": null,
"aa_start": 1048,
"aa_end": null,
"aa_length": 1302,
"cds_start": 3143,
"cds_end": null,
"cds_length": 3909,
"cdna_start": 3280,
"cdna_end": null,
"cdna_length": 6854,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF536",
"gene_hgnc_id": 29025,
"hgvs_c": "c.3143C>A",
"hgvs_p": "p.Ala1048Glu",
"transcript": "ENST00000706150.1",
"protein_id": "ENSP00000516233.1",
"transcript_support_level": null,
"aa_start": 1048,
"aa_end": null,
"aa_length": 1302,
"cds_start": 3143,
"cds_end": null,
"cds_length": 3909,
"cdna_start": 3307,
"cdna_end": null,
"cdna_length": 6929,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF536",
"gene_hgnc_id": 29025,
"hgvs_c": "c.3143C>A",
"hgvs_p": "p.Ala1048Glu",
"transcript": "ENST00000706142.1",
"protein_id": "ENSP00000516226.1",
"transcript_support_level": null,
"aa_start": 1048,
"aa_end": null,
"aa_length": 1300,
"cds_start": 3143,
"cds_end": null,
"cds_length": 3903,
"cdna_start": 3357,
"cdna_end": null,
"cdna_length": 4996,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF536",
"gene_hgnc_id": 29025,
"hgvs_c": "c.3143C>A",
"hgvs_p": "p.Ala1048Glu",
"transcript": "ENST00000706144.1",
"protein_id": "ENSP00000516228.1",
"transcript_support_level": null,
"aa_start": 1048,
"aa_end": null,
"aa_length": 1300,
"cds_start": 3143,
"cds_end": null,
"cds_length": 3903,
"cdna_start": 3498,
"cdna_end": null,
"cdna_length": 5137,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF536",
"gene_hgnc_id": 29025,
"hgvs_c": "c.3143C>A",
"hgvs_p": "p.Ala1048Glu",
"transcript": "ENST00000706146.1",
"protein_id": "ENSP00000516229.1",
"transcript_support_level": null,
"aa_start": 1048,
"aa_end": null,
"aa_length": 1300,
"cds_start": 3143,
"cds_end": null,
"cds_length": 3903,
"cdna_start": 3280,
"cdna_end": null,
"cdna_length": 4919,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF536",
"gene_hgnc_id": 29025,
"hgvs_c": "c.896C>A",
"hgvs_p": "p.Ala299Glu",
"transcript": "ENST00000706143.1",
"protein_id": "ENSP00000516227.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 630,
"cds_start": 896,
"cds_end": null,
"cds_length": 1893,
"cdna_start": 1181,
"cdna_end": null,
"cdna_length": 4082,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF536",
"gene_hgnc_id": 29025,
"hgvs_c": "c.896C>A",
"hgvs_p": "p.Ala299Glu",
"transcript": "ENST00000706149.1",
"protein_id": "ENSP00000516232.1",
"transcript_support_level": null,
"aa_start": 299,
"aa_end": null,
"aa_length": 630,
"cds_start": 896,
"cds_end": null,
"cds_length": 1893,
"cdna_start": 1205,
"cdna_end": null,
"cdna_length": 4106,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF536",
"gene_hgnc_id": 29025,
"hgvs_c": "c.3230C>A",
"hgvs_p": "p.Ala1077Glu",
"transcript": "XM_011527554.3",
"protein_id": "XP_011525856.1",
"transcript_support_level": null,
"aa_start": 1077,
"aa_end": null,
"aa_length": 1408,
"cds_start": 3230,
"cds_end": null,
"cds_length": 4227,
"cdna_start": 3498,
"cdna_end": null,
"cdna_length": 7080,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF536",
"gene_hgnc_id": 29025,
"hgvs_c": "c.3230C>A",
"hgvs_p": "p.Ala1077Glu",
"transcript": "XM_011527557.3",
"protein_id": "XP_011525859.1",
"transcript_support_level": null,
"aa_start": 1077,
"aa_end": null,
"aa_length": 1408,
"cds_start": 3230,
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"cdna_start": 3405,
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"cdna_length": 6987,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF536",
"gene_hgnc_id": 29025,
"hgvs_c": "c.3230C>A",
"hgvs_p": "p.Ala1077Glu",
"transcript": "XM_011527558.3",
"protein_id": "XP_011525860.1",
"transcript_support_level": null,
"aa_start": 1077,
"aa_end": null,
"aa_length": 1408,
"cds_start": 3230,
"cds_end": null,
"cds_length": 4227,
"cdna_start": 3396,
"cdna_end": null,
"cdna_length": 6978,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF536",
"gene_hgnc_id": 29025,
"hgvs_c": "c.3230C>A",
"hgvs_p": "p.Ala1077Glu",
"transcript": "XM_017027527.2",
"protein_id": "XP_016883016.1",
"transcript_support_level": null,
"aa_start": 1077,
"aa_end": null,
"aa_length": 1408,
"cds_start": 3230,
"cds_end": null,
"cds_length": 4227,
"cdna_start": 3583,
"cdna_end": null,
"cdna_length": 7165,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF536",
"gene_hgnc_id": 29025,
"hgvs_c": "c.3230C>A",
"hgvs_p": "p.Ala1077Glu",
"transcript": "XM_017027528.2",
"protein_id": "XP_016883017.1",
"transcript_support_level": null,
"aa_start": 1077,
"aa_end": null,
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"cds_start": 3230,
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"cdna_start": 3466,
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"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF536",
"gene_hgnc_id": 29025,
"hgvs_c": "c.3230C>A",
"hgvs_p": "p.Ala1077Glu",
"transcript": "XM_017027529.2",
"protein_id": "XP_016883018.1",
"transcript_support_level": null,
"aa_start": 1077,
"aa_end": null,
"aa_length": 1408,
"cds_start": 3230,
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"cdna_start": 3672,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF536",
"gene_hgnc_id": 29025,
"hgvs_c": "c.3230C>A",
"hgvs_p": "p.Ala1077Glu",
"transcript": "XM_017027530.2",
"protein_id": "XP_016883019.1",
"transcript_support_level": null,
"aa_start": 1077,
"aa_end": null,
"aa_length": 1408,
"cds_start": 3230,
"cds_end": null,
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"cdna_start": 3514,
"cdna_end": null,
"cdna_length": 7096,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF536",
"gene_hgnc_id": 29025,
"hgvs_c": "c.3230C>A",
"hgvs_p": "p.Ala1077Glu",
"transcript": "XM_017027531.2",
"protein_id": "XP_016883020.1",
"transcript_support_level": null,
"aa_start": 1077,
"aa_end": null,
"aa_length": 1408,
"cds_start": 3230,
"cds_end": null,
"cds_length": 4227,
"cdna_start": 3608,
"cdna_end": null,
"cdna_length": 7190,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF536",
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}
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}